A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731009



Internal ID10314645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:163573881..163574939hg38UCSC Ensembl
Outerchr5:163000887..163001945hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855022, essv6963488, essv6959451, essv6860648, essv6907387, essv6974533, essv6778045, essv6826247, essv6670924, essv6774488, essv6918608, essv6824821, essv6886886
SamplesSSM027, SSM087, SSM088, SSM029, SSM017, SSM031, SSM067, SSM014, SSM066, SSM080, SSM010, SSM004, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731009
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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